G-banded karyotypes have been studied in C57Bl control mice and in animals developing leukemia after i.p. injection of acellular extract of spleen or lymph nodes from isologous animals showing radiation induced leukemia. No visible differences could be detected with respect to the number, size and position of the G-bands between the two groups of animals. From the present observations and from previous work with conventional staining methods, it can be concluded that the development of such leukemia does not involve the presence of chromosome abnormalities.

On the basis of a study of 9 new cases of Fabry's disease (7 hemizygotes and 2 heterozygotes), the authors recall that the disease often presents as a painful syndrome of the extremities but its exact nature usually remains obscure for long periods. The association of such pain with angiokeratomas and the notion of a family history is highly suggestive of the disease. The biochemical possibilities in the diagnosis of the latter are described. All patients underwent transcutaneous renal biopsy. In the 7 hemizygotes and one of the heterozygotes, light microscopy revealed diffuse characteristic vacuolisation of the glomerular cells. In the other heterozygote, the glomerular lesions were very limited, seen only by electron microscopy.

The relatives of a 82 years old female patients with a Waldenstrom Macroglobulinemia were submitted to clinical and hematological investigations. A diclonal gammapathy (IgG kappa and IgG lambda) was found in the sister's serum and was related to a myeloma. A noticiable Bence Jones Proteinuria (light chain of lambda type) was equally found in serum and urines of the propositus brother but without any clinical or hematological evidence of myeloma. The examination of two other sisters of these patients does not reveal any immunological of hematological disorder. This new observation underlines the interest of a systematical investigation in the siblings of the patients with monoclonal gammapathies.

The blastic phase of a Ph1-positive chronic myeloid leukemia (CML) is often characterized by hyperdiploidy and sometimes by the presence of a double Ph1, suggesting a pattern of clonal evoluation. In the case reported here, the caryotype at the time of diagnosis in 1970 was 46, XY, Ph1. In 1975, after a blastic evolution followed by a drug-induced hematologic remission, cytogenetic studies revealed a chromosomal mosaic: 47, XY, 2 Ph1 and 51, XY, 3 Ph1, 3 C, the clone with 3 Ph1 representing approximately 20% of the mitotic cells. Furthermore, with the Giemsa banding technique, it was possible to identify the 3 supplementary C chromosomes of the 51 chromosomes clone, as being an 8, a 9 and 9 q + respectively. This observation illustrates the succession of chromosomal anomalies occurring during the evolution of CML with, in this case, the unusual appearance of a clone with 3 Ph1.

The authors analyse the various high-risk factors for breast cancer which have been described by many authors and their relative importance and intricacies. Some of these factors are concerned with the age of the patient, some with the time the periods started, some with the time the menopause occured and whether this was natural or artificial.

A case of Bourneville's disease is described, which is unusual because of the absence of clinical symptomatology until death occurred in the ninth month of life. Moreover, the post-mortem examination revealed the presence of cortical plaques of tuberous sclerosis which were in number, size and extension much more pronounced than in any previously published cases. On the basis of extensive topographical preparations of continuous sections taken from two cerebral hemispheres, the author provides an exact spatial representation of the tuberous sclerotic lesions and demonstrates the almost complete integrity of the central grey nuclei and the rhinencephalic complex. From data collected on numerous published infantile cases, in which he records the date of the onset of epilepsy, and, in addition, making use of neuropediatric and electrophysiological studies, he attempts to demonstrate that the appearance of the first neurological symptoms is related to certain stages of the cerebral corticalisation. So far as genetic factors are concerned, the family histroy did not provide any evidence of disease in ancestors, and a clinical examination of the parents did not disclose any stigmata of Bourneville's disease. This case can thus be considered as sporadic, due to a new mutation.

The author reviews the literature about the inheritance of retinoblastoma and notes an increase of both the frequency of the affection and the chance of survival. He then estimates the genetic risks for the descendency in all cases of sporadic and familial retinoblastoma.

A case of chronic myelogenous leukemia with myelofibrosis and failure to respond to busulfan therapy has been reported. An abnormal clone with a rearrangement of four chromosomes, 46, XX, t(1;9) (q21; q24), t(6;22) (q26;q11) was observed. The possible significance of these chromosome abnormalities which are different from the t(9;22) translocation in C.M.L. is discussed.